Canonical Allele Identifier: CA324877620

Gene: SAMM50

Linked Data

• dbSNP Id: rs1030744284
• gnomAD v3: 22-43998569-A-G
• gnomAD v4: 22-43998569-A-G
• MyVariant Identifiers: chr22:g.44394449A>G (hg19) ; chr22:g.43998569A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43998569A>G , CM000684.2:g.43998569A>G	GRCh38
NC_000022.10:g.44394449A>G , CM000684.1:g.44394449A>G	GRCh37
NC_000022.9:g.42725782A>G	NCBI36
NG_029743.1:g.4359A>G
NG_029743.2:g.4359A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465768.1:n.79+8163A>G